ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.690C>T (p.Ile230=)

dbSNP: rs747694940
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002547273 SCV001106957 likely benign Pontocerebellar hypoplasia type 1A 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000960012 SCV001466020 likely benign Congenital pontocerebellar hypoplasia type 1 2020-09-01 no assertion criteria provided clinical testing

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